ectodermal dysplasia

heterogeneous group of developmental disorders affecting tissues of ectodermal origin Pathology: - abnormal development of two or more ectodermal structures such as hair, teeth, nails & sweat glands, with or without any additional clinical sign - each combination of clinical features represents a different type of ectodermal dysplasia Genetics: - associated with defects in EDAR

Specific

acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) anhidrotic ectodermal dysplasia ectodermal dysplasia pure hair-nail type ectodermal dysplasia Rapp-Hodgkin type; Rapp-Hodgkin syndrome; anhidrotic ectodermal dysplasia with cleft lip/palate (EDRH) ectodermal dysplasia type 1 (Christ-Siemens-Touraine syndrome, X-linked hypohidrotic ectodermal dysplasia) ectodermal dysplasia with ectrodactyly & macular dystrophy; EEM syndrome; Albrectsen-Svendsen syndrome; Ohdo-Hirayama-Terawaki syndrome ectodermal dysplasia/skin fragility syndrome (McGrath syndrome) keratitis-ichthyosis-deafness syndrome (KID syndrome) Kirman syndrome Schopf-Schulz-Passarge syndrome Witkop syndrome; tooth-&-nail syndrome; dysplasia of nails with hypodontia

References

Stedmans Medical Dictionary, Williams & Wilkins 1995, 26th ed